Linked Data
ClinVar Variation Id:
508782
dbSNP Id:
rs369502543
ExAC:
21:47422252 C / T
gnomAD v2:
21-47422252-C-T
gnomAD v3:
21-46002338-C-T
gnomAD v4:
21-46002338-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002338C>T , CM000683.2:g.46002338C>T | GRCh38 |
| NC_000021.8:g.47422252C>T , CM000683.1:g.47422252C>T | GRCh37 |
| NC_000021.7:g.46246680C>T | NCBI36 |
| NG_008674.1:g.25590C>T , LRG_475:g.25590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.586C>T | ||
| ENST00000612273.2:c.313C>T | ||
| ENST00000682634.1:c.313C>T | ||
| ENST00000361866.8:c.2187C>T MANE Select | ENSP00000355180.3:p.Asp729= | |
| ENST00000361866.7:c.2187C>T | ENSP00000355180.3:p.Asp729= | |
| ENST00000463060.5:n.586C>T | ||
| ENST00000498614.5:n.421C>T | ||
| ENST00000612273.1:c.2181C>T | ENSP00000483630.1:p.Asp727= | |
| NM_001848.2:c.2187C>T , LRG_475t1:c.2187C>T | NP_001839.2:p.Asp729= | |
| NM_001848.3:c.2187C>T MANE Select | NP_001839.2:p.Asp729= |